Linked Data
ClinVar Variation Id:
506781
ClinVar RCV Id:
RCV000601674
dbSNP Id:
rs556945561
gnomAD v3:
16-30748481-G-A
gnomAD v4:
16-30748481-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30748481G>A , CM000678.2:g.30748481G>A | GRCh38 |
| NC_000016.9:g.30759802G>A , CM000678.1:g.30759802G>A | GRCh37 |
| NC_000016.8:g.30667303G>A | NCBI36 |
| NG_016616.1:g.5183G>A | |
| NG_016616.2:g.5183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.-28G>A MANE Select | ENSP00000455607.1:n.-28G>A | |
| ENST00000328273.11:c.-28G>A | ENSP00000329968.7:n.-28G>A | |
| ENST00000424889.7:c.-28G>A | ENSP00000388571.3:n.-28G>A | |
| ENST00000563588.5:c.-28G>A | ENSP00000455607.1:n.-28G>A | |
| ENST00000563913.5:n.39G>A | ||
| ENST00000564838.5:n.80G>A | ||
| ENST00000565924.5:c.-19+63G>A | ENSP00000455091.1:n.-19+63G>A | |
| NM_000294.2:c.-28G>A | NP_000285.1:n.-28G>A | |
| NM_001172432.1:c.-28G>A | NP_001165903.1:n.-28G>A | |
| NM_000294.3:c.-28G>A MANE Select | NP_000285.1:n.-28G>A | |
| NM_001172432.2:c.-28G>A | NP_001165903.1:n.-28G>A |